[Kiwi]

We had our appointment with the doctor this morning to get the test results back from our baby and the results from the tests we had.

I have a 'Balanced Translocation' which means I've got the right amount of chromosomes, they are just in the wrong place. Part of chromosome 3 is attached to 15. This means I am 'normal', development wise, but will 'suffer reproductive difficulties due to the production of unbalanced gametes'... meaning repeated miscarriage, or having abnormal babies (hence what happened with our previous pregnancy).

Our baby did not have Edward Syndrome. Apparently it is incredibly rare to have got this wrong. She had an 'Unbalanced Translocation' which means she had to much genetic material (almost a whole extra chromosome 3 and part of that chromosome is on 15). We did however made the right decision in terminating the pregnancy as this is even more serious than Edwards. There is no way she could have survived.

Our current doctor thinks it will be a matter of try to fall pregnant again, and if the above happens again, then we possibility be looking at IVF, with the embryos being tested before they are implanted inside me. This isn't really her area though, so we are being referred to a genetics doctor so are currently waiting for a appointment.

As I obviously 'passed' this onto our baby (only to a much more serious degree), my family will possibility be tested too, to see if it's genetic. My Mum, Dad and sister are all happy to do so, if needed.

I rang my boss and he has given me the day off.

I'm just feeling so numb right now.

[*JenJen*]

oh hon. I think this is what Kyle and her DH are dealing with as well...

My pthoughts are with you guys.

[bittersweet]

You know what you are working with now and you've been given resources for the next step. It must be so difficult to take all this in...but it sounds like with a healthy baby is attainable and in your future. I'm really glad you have some answers.

[..Penelope..]

I'm so sorry that you're going through this, Tasha. Thinking of you and your DH.

[alicenwonderland]

Hugs Tash. Praying for you guys. If you need support, I think Kyle knows a lot about this.

[Resi]

I'm sorry. T&P. This does kind of sound what Kyle and her husband had to deal wtih.

[soImarriedAnerd]

Yep thats what eric and kyle had (one of the two things). Not sure if the same numbered chromosomes though.

[LisanAndy]

Oh gosh hun, I'm so beyond sorry. Prayers going up for you ((HUGS))

[JediRach]

I'm so happy you found out what's going on and sorry its not good. At least you know and now can plan accordingly.

[~Caroline~]

I'm so sorry Tasha. I'm keeping you in my thoughts.

I'm very sorry Tasha! Sending lots of :grouphugs:

I am so sorry

Erika at ttc#1 also is dealing with this, and has been for a long time. She recently lost a little girl due to balanced translocation, I think. My thoughts are with you, I can't imagine how hard it is to go through what you have and the decision you have had to make. I hope the specialist will be able to get you a healthy bean soon

[sara~b]

I'm so sorry. I am glad that you have answers though. Is this like most genetic issues where there is only a 1 in 4 chance of it repeating? I really hope you get your sticky, healthy BFP soon. I just feel so much pain for you right now. I'm so sorry you have to deal with this. ((((((HUGS)))))))

[*krista*]

Goodness Tasha. I'm sorry you didn't get better news. I immediately thought of Kyle too when I read what is going on, I wonder if it is the same thing? If so that is encouraging considering the circumstances. Will you guys be trying while you are waiting to see the genetics doc?

BIG hugs...

[Chelnae6]

I'm sorry Tash!!! I have the same question as Sara as far as is it one of those where its a 1 in 4 chance of your baby getting it in the even that you get pregnant again.

At least they didnt say that you didnt have a chance of having a healthy baby and that there are options.

[A*LOT*OF*HOPE]

I am so sorry!!! I hope Kyle pops in here to offer you some advice!!

[Mars]

I'm so sorry you're going through this. It is good to have some answers though. I hope that your upcoming appointments will be able to offer rays of hope for you. (((HUGS)))

[~*Bethy*~]

oh hun Im glad you got some answers...let us know if you need anything

[ScottishBrit]

Oh Tasha! Im so sorry. Im glad you got some answers though! I just know you'll get a healthy bean one day soon!!!

[sara~b]

I wanted to do some research and found a blog from a woman with a (1,15) unbalanced translocation child. Obviously, do not follow this link if it will pain you but she posted a very nice explanation of what all of the terms mean and links to medical explanations and drawings and all kinds of great information on how and why this happens and the consequences. From what I can gather about the balanced translocation you have and it's consequences on TTC you have a 50/50 chance of this happening. I guess the good news is there is a very good chance you can have many healthy children. The bad news is that IVF is probably the best way to be sure you don't suffer a loss again. I am so sorry that you are going through this but I hope this womans journey can help you as well.

Connor's Song: Medical Monday: Connor's Chromosomal Condition (The Extremely Long Explanation)